Kinoshita A - Search Results

1

Copy number variation of the antimicrobial-gene, defensin beta 4, is associated with susceptibility to cervical cancer.

Abe S, Miura K, Kinoshita A, Mishima H, Miura S, Yamasaki K, Hasegawa Y, Higashijima A, Jo O, Sasaki K, Yoshida A, Yoshiura K, Masuzaki H. Abe S, et al. Among authors: kinoshita a. J Hum Genet. 2013 May;58(5):250-3. doi: 10.1038/jhg.2013.7. Epub 2013 Mar 7. J Hum Genet. 2013. PMID: 23466823

2

A catalog of 106 single-nucleotide polymorphisms (SNPs) and 11 other types of variations in genes for transforming growth factor-beta1 (TGF-beta1) and its signaling pathway.

Watanabe Y, Kinoshita A, Yamada T, Ohta T, Kishino T, Matsumoto N, Ishikawa M, Niikawa N, Yoshiura K. Watanabe Y, et al. Among authors: kinoshita a. J Hum Genet. 2002;47(9):478-83. doi: 10.1007/s100380200069. J Hum Genet. 2002. PMID: 12202987

3

TGFB1 mutations in four new families with Camurati-Engelmann disease: confirmation of independently arising LAP-domain-specific mutations.

Kinoshita A, Fukumaki Y, Shirahama S, Miyahara A, Nishimura G, Haga N, Namba A, Ueda H, Hayashi H, Ikegawa S, Seidel J, Niikawa N, Yoshiura KI. Kinoshita A, et al. Am J Med Genet A. 2004 May 15;127A(1):104-107. doi: 10.1002/ajmg.a.20671. Am J Med Genet A. 2004. PMID: 15103729 No abstract available.

4

Isolated congenital anosmia with morphologically normal olfactory bulb in two Iranian families: a new clinical entity?

Ghadami M, Majidzadeh-A K, Morovvati S, Damavandi E, Nishimura G, Komatsu K, Kinoshita A, Najafi MT, Niikawa N, Yoshiura K. Ghadami M, et al. Among authors: kinoshita a. Am J Med Genet A. 2004 Jun 15;127A(3):307-9. doi: 10.1002/ajmg.a.30025. Am J Med Genet A. 2004. PMID: 15150785

5

The IHPK1 gene is disrupted at the 3p21.31 breakpoint of t(3;9) in a family with type 2 diabetes mellitus.

Kamimura J, Wakui K, Kadowaki H, Watanabe Y, Miyake K, Harada N, Sakamoto M, Kinoshita A, Yoshiura KI, Ohta T, Kishino T, Ishikawa M, Kasuga M, Fukushima Y, Niikawa N, Matsumoto N. Kamimura J, et al. Among authors: kinoshita a. J Hum Genet. 2004;49(7):360-365. doi: 10.1007/s10038-004-0158-z. Epub 2004 Jun 18. J Hum Genet. 2004. PMID: 15221640

6

Heterozygous TGFBR2 mutations in Marfan syndrome.

Mizuguchi T, Collod-Beroud G, Akiyama T, Abifadel M, Harada N, Morisaki T, Allard D, Varret M, Claustres M, Morisaki H, Ihara M, Kinoshita A, Yoshiura K, Junien C, Kajii T, Jondeau G, Ohta T, Kishino T, Furukawa Y, Nakamura Y, Niikawa N, Boileau C, Matsumoto N. Mizuguchi T, et al. Among authors: kinoshita a. Nat Genet. 2004 Aug;36(8):855-60. doi: 10.1038/ng1392. Epub 2004 Jul 4. Nat Genet. 2004. PMID: 15235604 Free PMC article.

7

Identification of a 3.0-kb major recombination hotspot in patients with Sotos syndrome who carry a common 1.9-Mb microdeletion.

Visser R, Shimokawa O, Harada N, Kinoshita A, Ohta T, Niikawa N, Matsumoto N. Visser R, et al. Among authors: kinoshita a. Am J Hum Genet. 2005 Jan;76(1):52-67. doi: 10.1086/426950. Epub 2004 Nov 16. Am J Hum Genet. 2005. PMID: 15580547 Free PMC article.

8

Neuron-specific relaxation of Igf2r imprinting is associated with neuron-specific histone modifications and lack of its antisense transcript Air.

Yamasaki Y, Kayashima T, Soejima H, Kinoshita A, Yoshiura K, Matsumoto N, Ohta T, Urano T, Masuzaki H, Ishimaru T, Mukai T, Niikawa N, Kishino T. Yamasaki Y, et al. Among authors: kinoshita a. Hum Mol Genet. 2005 Sep 1;14(17):2511-20. doi: 10.1093/hmg/ddi255. Epub 2005 Jul 21. Hum Mol Genet. 2005. PMID: 16037066

9

PAX9 and TGFB3 are linked to susceptibility to nonsyndromic cleft lip with or without cleft palate in the Japanese: population-based and family-based candidate gene analyses.

Ichikawa E, Watanabe A, Nakano Y, Akita S, Hirano A, Kinoshita A, Kondo S, Kishino T, Uchiyama T, Niikawa N, Yoshiura KI. Ichikawa E, et al. Among authors: kinoshita a. J Hum Genet. 2006;51(1):38-46. doi: 10.1007/s10038-005-0319-8. Epub 2005 Oct 25. J Hum Genet. 2006. PMID: 16247549

10

A SNP in the ABCC11 gene is the determinant of human earwax type.

Yoshiura K, Kinoshita A, Ishida T, Ninokata A, Ishikawa T, Kaname T, Bannai M, Tokunaga K, Sonoda S, Komaki R, Ihara M, Saenko VA, Alipov GK, Sekine I, Komatsu K, Takahashi H, Nakashima M, Sosonkina N, Mapendano CK, Ghadami M, Nomura M, Liang DS, Miwa N, Kim DK, Garidkhuu A, Natsume N, Ohta T, Tomita H, Kaneko A, Kikuchi M, Russomando G, Hirayama K, Ishibashi M, Takahashi A, Saitou N, Murray JC, Saito S, Nakamura Y, Niikawa N. Yoshiura K, et al. Among authors: kinoshita a. Nat Genet. 2006 Mar;38(3):324-30. doi: 10.1038/ng1733. Epub 2006 Jan 29. Nat Genet. 2006. PMID: 16444273

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